July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
The yield of "clinical" genetic testing in inherited retinal disease: experience at the Hospital for Sick Children, Toronto, Canada
Author Affiliations & Notes
  • Vaishnavi Batmanabane
    The Hospital for Sick Children, Toronto, Ontario, Canada
  • Alexander Liam Pearson
    The Hospital for Sick Children, Toronto, Ontario, Canada
  • Caberry Yu
    The Hospital for Sick Children, Toronto, Ontario, Canada
  • Ajoy Vincent
    The Hospital for Sick Children, Toronto, Ontario, Canada
  • Elise Heon
    The Hospital for Sick Children, Toronto, Ontario, Canada
  • Footnotes
    Commercial Relationships   Vaishnavi Batmanabane, None; Alexander Pearson, None; Caberry Yu, None; Ajoy Vincent, None; Elise Heon, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 3976. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Vaishnavi Batmanabane, Alexander Liam Pearson, Caberry Yu, Ajoy Vincent, Elise Heon; The yield of "clinical" genetic testing in inherited retinal disease: experience at the Hospital for Sick Children, Toronto, Canada. Invest. Ophthalmol. Vis. Sci. 2019;60(9):3976.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose : The diagnostic yield of genetic testing in inherited retinal dystrophies (IRD) varies at different centers. This retrospective study evaluates the proportion of IRD patients seen at the Hospital for Sick Children (SickKids) who receive conclusive genetic test results. Our aim was to determine the yield of genetic testing for IRDs at SickKids over the span of 2 years and delineate which subgroups of IRD patients had a higher likelihood of having causative mutations identified.

Methods : Patients who had been clinically evaluated and offered clinical genetic testing at the Ocular Genetics Clinic in Sickkids Hospital from January 2016 to December 2017 were included. Clinical diagnosis, genetic testing results and follow-up plan were obtained from the internal ocular genetic database and patient records. Results were categorized based on clinical diagnosis e.g. Lebers Congenital Amaurosis (LCA), Achromatopsia etc. Descriptive statistics were used to analyse the data.

Results : The patient population included in the study was 647 individuals (419 probands, 228 relatives). Of the probands 255 (60.85%) were male and 162 (38.66%) were female. Among the probands 231 (55.13%) had causative mutations identified, 105 (25.05%) had VUS, 67 (15.99%) had a negative result, and the rest did not have testing done. Of all diagnoses, IRDs comprised more than 50% of cases. Among the subcategories based on clinical diagnoses, causative mutations were identified in 88.23% (15/17) of LCA patients and in 71.42% (10/14) of patients with achromatopsia. The number of patients who had no causative mutations identified were highest in the retinal dystrophies subcategory (34/268) at 12.68%.

Conclusions : The systematic multidisciplinary approach to patient diagnosis and management at SickKids yields a higher rate of identifying causative mutations than has previously been described. This number will become higher as more VUSs become recategorized as pathogenic variants. The high yield of genetic tests for IRD will continue to improve and contribute positively to patient management.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

 

Results of yield of genetic testing on patients with Inherited Retinal Dystrophies at SickKids Hospital

Results of yield of genetic testing on patients with Inherited Retinal Dystrophies at SickKids Hospital

 

Yield of genetic testing at SickKids Hospital based on subcategories of Inherited Retinal Dystrophies

Yield of genetic testing at SickKids Hospital based on subcategories of Inherited Retinal Dystrophies

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×